A polymorphic Alu insertion that mediates distinct disease-associated deletions

Large deletions that are associated with insertions of Alu-derived sequence represent a rare, but potentially unique class of alterations. Whether they form by a one-step mechanism or by a primary insertion step followed by an independent secondary deletion step is not clear. We resolved two disease...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Jahic, Amir, Erichsen, Anne K, Deufel, Thomas, Tallaksen, Chantal M, Beetz, Christian
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2016
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Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989209/
https://ncbi.nlm.nih.gov/pubmed/26932189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.20
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